Results 11 to 20 of about 131 (70)

Real‐World Effectiveness and Safety of Pegzilarginase Treatment in Arginase 1 Deficiency

JIMD Reports
Pegzilarginase is the first disease‐modifying drug for arginase 1 deficiency. In clinical trials, pegzilarginase effectively normalised plasma arginine (pArg), which was associated with clinically relevant improvements in neuromotor outcomes.
Anaïs Brassier, Alina Arion, Jean‐Baptiste Arnoux, Magalie Barth, Dries Dobbelaere, Magali Gorce, Michael Grövdal, Cécile Laroche, Olivia Rime, Manuel Schiff, Mattias Rudebeck   +10 more
doaj   +3 more sources

Long‐Term Efficacy and Tolerability of Pegzilarginase in Arginase 1 Deficiency: Results of Two International Multicentre Open‐Label Extension Studies

Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
ABSTRACT Arginase 1 deficiency (ARG1‐D) is an autosomal recessive urea cycle disorder characterised by chronic hyperargininaemia, progressive spasticity, loss of mobility, and cognitive dysfunction. Standard of care (SOC), based on dietary protein restriction, rarely prevents progression.
Markey McNutt, Frank Rutsch, Rossana Sanchez Russo, Serena Gasperini, Spyros Batzios, Elisa Leão Teles, Anaïs Brassier, Jaya Ganesh, Andreas Schulze, Gregory M. Enns, Mattias Rudebeck   +10 more
wiley   +3 more sources

Pegzilarginase (Loargys)

Canadian Journal of Health Technologies
Canada’s Drug Agency (CDA-AMC) recommends that Loargys be reimbursed by public drug plans for the treatment of hyperargininemia in adults and pediatric patients aged 2 years or older with arginase 1 deficiency (ARG1-D), in conjunction with dietary ...
CDA-AMC
core   +2 more sources

Pegzilarginase [PDF]

, 2020

core   +2 more sources

Prevalence, Disease Onset and Clinical Outcome in Arginase 1 Deficiency: Cross-Border Surveillance in Germany, Austria, and Switzerland. [PDF]

J Inherit Metab Dis
ABSTRACT Arginase 1 deficiency (ARG1‐D) is an ultra‐rare urea cycle disorder characterized by progressive spastic paraplegia, developmental delay, epilepsy, and episodic hyperammonemia. Evidence on prevalence and clinical presentation is scarce. Therefore, epidemiology and the phenotypical spectrum were assessed in Germany, Austria, and Switzerland ...
Scharre S, Hess AL, Gleich F, Garbade SF, Feyh P, Karall D, Baghdasaryan A, Huemer M, Hennermann JB, Hahn A, Lindner M, Gramer G, Luecke T, Kleinelanghorst N, Haeberle J, Lotz-Havla AS, Hoffmann GF, Okun JG, Muetze U, Kölker S.   +19 more
europepmc   +2 more sources

Clinical Characteristics of Arginase 1 Deficiency: Natural History Insights From International Clinical Trials. [PDF]

J Inherit Metab Dis
ABSTRACT Arginase 1 deficiency (ARG1‐D) is an ultra‐rare inherited metabolic disorder of the urea cycle, caused by partial or complete loss of arginase 1 function, characterised by hyperargininaemia and a distinct, progressive neurological phenotype. The clinical development programme of pegzilarginase, a recombinant human ARG1 enzyme therapy, provides
Rudebeck M, Braverman N, Chang R, Enns GM, Ghosh A, Gorce M, Karall D, Sharma R, Shelkowitz E, Zori R, McNutt M.   +10 more
europepmc   +2 more sources

Cluster of Severe Arginase 1 Deficiency in the Comoros: Clinical, Neuroimaging, and Molecular Features in 17 Patients From Mayotte Compared With 10 From Paris. [PDF]

J Inherit Metab Dis
ABSTRACT Arginase 1 deficiency (ARG1D) is the least common urea cycle disorder. Neonatal onset is rarely described, and hyperammonemic coma is less common in patients with ARG1D compared to other urea cycle disorders. In recent years, we diagnosed a high number of ARG1D patients in Mayotte, an insular (Comoro Islands) department of France.
De Bruyne A, Imbard A, Roux CJ, Chamouine A, Schwab C, Brassier A, Arnoux JB, Bouchereau J, Laroche-Raynaud C, Mekdade T, Gaschignard M, Berat CM, Pontoizeau C, Gobin-Limballe S, de Lonlay P, Benoist JF, Schiff M.   +16 more
europepmc   +2 more sources

Abstract 869: Depletion of blood arginine with pegzilarginase (AEB1102) in combination with anti-PD-L1 increases tumor infiltration by immune cells and enhances antitumor activity

Cancer Research, 2018
Abstract Background: Tumors with impaired arginine synthesis are susceptible to extracellular arginine depletion. We report results from the first-in-human phase I trial of pegzilarginase (AEB1102, Co-ArgI-PEG), a pegylated, recombinant, cobalt-substituted human arginase I (NCT02561234).
Giulia Agnello, Christopher L. Daige, Leslie Priddy, Scott W. Rowlinson, Mark D. Badeaux, Danlee Enzler, Jason F. Wiggins   +6 more
core   +4 more sources

Disease burden among patients with Arginase 1 deficiency and their caregivers: A multinational, cross-sectional survey. [PDF]

JIMD Rep
Abstract Arginase 1 deficiency (ARG1‐D) is an ultrarare, metabolic disease which may cause spastic paraplegia, cognitive deficiency, seizures, and ultimately severe disability. The aim of this study was to assess disease burden in ARG1‐D by performing a cross‐sectional survey of patients with ARG1‐D and their caregivers in four European countries ...
Olofsson S, Löfvendahl S, Widén J, Jacobson L, Lindgren P, Stepien KM, Arnoux JB, Luz Couce Pico M, Leão Teles E, Rudebeck M.   +9 more
europepmc   +2 more sources

Clinical status, biochemical profile and management of a single cohort of patients with arginase deficiency. [PDF]

JIMD Rep, 2022
Abstract Arginase deficiency is a rare autosomal recessive urea cycle disorder (UCD) caused by mutations in the ARG1 gene encoding arginase that catalyses the hydrolysis of arginine to ornithine and urea. Patients have hyperargininaemia and progressive neurological impairment but generally suffer fewer metabolic decompensations compared to other UCDs ...
Keshavan N, Wood M, Alderson LM, Cortina-Borja M, Skeath R, McSweeney M, Dixon M, Cleary MA, Footitt E, Batzios S.   +9 more
europepmc   +2 more sources